Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 49
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1563221666
SFTPC
0.882 0.120 8 22162694 missense variant C/T snv 14
rs776720232
PGAP3
0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06 10
rs1567690011
PRMT7
0.882 0.080 16 68337496 frameshift variant AG/- delins 9
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins 9
rs1559307932
PDE6D
0.807 0.360 2 231737190 frameshift variant -/C ins 8